Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Oct;41(10):2787-2793.
doi: 10.1007/s10815-024-03224-4. Epub 2024 Aug 20.

Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential

Francesca Paola Luongo #  1 , Eugenia Annunzi #  1 , Francesca Girolamo  1 , Giuseppe Belmonte  1 , Rosetta Ponchia  1 , Paola Piomboni  2 , Alice Luddi  1
Affiliations

Assessment of sperm chromosomal abnormalities using fluorescence in situ hybridization (FISH): implications for reproductive potential

Francesca Paola Luongo et al. J Assist Reprod Genet. 2024 Oct.

Abstract

Purpose: Chromosomal abnormalities play an important role in male infertility, which is becoming a significant issue in human fertility. Aim of this study was to evaluate the incidence of spermatic aneuploidies and diploidies in human sperm, according to semen parameters.

Methods: We performed semen analysis according to the 6th edition of WHO criteria in 50 male subjects; samples were divided into normozoospermic (n = 23) or those with altered seminal parameters (n = 27). To assess chromosomal numerical alterations of sperm, fluorescence in situ hybridization (FISH) was used.

Result: A significant increase in aneuploidies and diploidies was observed in samples with altered seminal parameters. Furthermore, stratifying this group, we observed a significant increase in aneuploidies and total abnormalities in oligozoospermic, asthenoteratozoospermic (AT), and oligoteratoasthenozoospermic (OAT) samples compared to normozoospermic.

Conclusion: Our results showed the correlation between altered seminal parameters and numerical chromosomal abnormalities, confirming that sperm FISH analysis could be an additional clinical tool to assess reproductive potential in infertile males. Moreover, our results point to the importance of updating the normality ranges for detecting chromosomal aneuploidies using FISH.

Keywords: Aneuploidies; FISH; Semen parameters; Sperm.

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Representative images of different FISH signal patterns used to assess sperm chromosomal abnormalities. Nullisomies, where one chromosome signal is absent (A-C). Disomies, featuring two signals from the same chromosome and one from another (D-H), demonstrate distinct signal separation. Diploidies, indicating two signals from each chromosome (I-L), reflect a consistent pattern across the set. Normal chromosomal asset (M). Y (green), X (red), 18 (yellow), Magnification: 6300 x
Fig. 2
Fig. 2
Mean frequencies of aneuploidies, diploidies and total of chromosomal anomalies in normozoospermic and samples classified in oligozoospermic, AT and OAT. Significant differences are indicated (Bonferroni correction *p < 0.05; **p < 0.01; ***p < 0.001; ****p < 0.0001)
Fig. 3
Fig. 3
Mean frequencies of disomies in normozoospermic and samples classified in oligozoospermic, AT and OAT. Significant differences are indicated (Bonferroni correction *p < 0.05; **p < 0.01; ****p < 0.0001; ***p < 0.001)
See this image and copyright information in PMC

References

    1. Egozcue S. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update. 2000;6(1):93–105. 10.1093/humupd/6.1.93. - PubMed
    1. Therman E, Susman M. Numerically abnormal chromosome constitutions in humans. In: Human Chromosomes, New York, NY: Springer US; 1993. Pp. 237–253. 10.1007/978-1-4684-0529-3_24.
    1. Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl. 2012;14(1):32–9. 10.1038/aja.2011.66. - PMC - PubMed
    1. Sarrate Z, Blanco J, Anton E, Egozcue S, Egozcue J, Vidal F. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counselling. Asian J Androl. 2005;7(3):227–36. 10.1111/j.1745-7262.2005.00061.x. - PubMed
    1. Aran B, et al. Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program. Fertil Steril. 1999;72(4):696–701. 10.1016/S0015-0282(99)00307-6. - PubMed

LinkOut - more resources